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At least 829 records · Page 46Linked to original sources
PubMed1998

Uric acid in the aqueous humor and tears of retinoblastoma patients.

PURPOSE: Malignancy can be associated with high levels of catabolic products. We performed a two-part study. Part 1 measured levels of uric acid and xanthine in the aqueous humor of eyes with malignant and nonmalignant diagnoses. Part 2 measured the levels of uric acid in tears of retinoblastoma patients. If compounds in high concentrations inside the eye could be detected outside the eye, via diffusion, in high concentrations in the tears, then a tear screening test for retinoblastoma could be developed. METHODS: High-performance liquid chromatography measured levels of uric acid and xanthine in aqueous humor samples of patients with retinoblastoma, melanoma, Coats' disease, adult cataract, and congenital cataract. Tear sampling was performed on patients with retinoblastoma and on normal eyes, and samples were assayed for uric acid. RESULTS: Part 1--Uric acid was elevated in the aqueous humor of eyes with retinoblastoma, melanoma, and Coats' disease compared with eyes with cataracts. Xanthine was elevated in retinoblastoma and Coats' disease and was lower in adult and congenital cataracts and melanoma. Part 2-No significant difference was found in the concentrations of uric acid in the tears of patients with retinoblastoma and those of normal patients. CONCLUSIONS: High levels of uric acid and xanthine present in the aqueous humor of patients with malignancy are consistent with the destructive nature of these conditions. Although uric acid was not elevated in the tears of retinoblastoma patients, continued investigation into substances that might be measurably different in the tears may yield a useful screening test in the future.

Adult↗
PubMed1998

Retinoblastoma with acute lymphoblastic leukemia, polyposis coli, and multiple hamartomas.

It has long been recognized that compared with their age- and sex-matched controls, survivors of hereditary retinoblastoma have a considerably higher risk of the development of second malignancies (10% at 20 years and 15% at 30 years of follow-up), including osteosarcoma, leiomyosarcoma, melanoma, fibrosarcoma, and other rare spindle cell sarcomas. Patients with the nongenetic variety of retinoblastoma do not particularly seem to have an increased incidence of other malignancies than the general population. However, it should be noted that a child with unilateral disease carries a 15% chance of having germline mutation. The cumulative mortality rate from second malignancies was 1.5% at 40 years after unilateral retinoblastoma diagnosis and 26% for bilateral cases in a large survey of 1458 patients. A child with unilateral retinoblastoma, café au lait spots, hairy nevus, and grouped pigmentation of retina in the fellow eye is described who furthermore developed acute leukemia and polyposis coli.

Adenomatous Polyposis Coli↗
PubMed1998

Clinical, cytogenetic, and molecular testing of Argentine patients with retinoblastoma.

PURPOSE: The purpose of this study is to determine the clinical, chromosomal, and molecular characteristics of Argentine patients with unilateral and bilateral retinoblastoma. STUDY DESIGN: Eighty-six patients belonging to 82 families were studied; 59% of them were examined during the first year of life. Leukocoria was the most common reason for consultation. Other presenting signs were strabismus and glaucoma. Enucleation of the affected eye was performed in 85% of the cases and the complication rate was 13%. RESULTS: An appropriate therapy allowed the survival of 84 of the 86 patients. Two children with malformations and growth retardation had an abnormal karyotype with a deletion in 13q14. Segregation analysis of polymorphic sites within the retinoblastoma gene and the parental origin of the allele lost in the tumor were analyzed in 30 of the 82 families. Five mutant alleles transmitted through the germline and six de novo germline mutant alleles were identified in 12 patients with hereditary retinoblastoma. Most de novo germline mutant alleles were paternally derived. Molecular analysis of nonhereditary retinoblastoma showed loss of heterozygosity in three of eight cases. From these, two maternal alleles and one paternal allele were lost, thus not indicating a significant difference in the parental origin for the lost allele. CONCLUSIONS: These data are useful for deoxyribonucleic acid diagnosis of susceptibility to retinoblastoma in relatives of hereditary patients, even if mutations have not been identified.

Alleles↗
PubMed1999

Visual outcomes in children with bilateral retinoblastoma.

BACKGROUND: Retinoblastoma is the most common primary intraocular tumor of childhood. Although studies have explored trends in retinoblastoma management and prognosis, few have addressed visual outcome. METHODS: A retrospective chart review was performed on children in whom bilateral retinoblastoma was diagnosed at New York Hospital-Cornell Medical College. A total of 74 children were included in the study. All children underwent radiation to the eyes that were studied. Fundus drawings done at the time of diagnosis were evaluated to determine the location of tumors on presentation and the Reese-Ellsworth classification. Visual outcome was classified into 3 groups: group 1 represented visual acuity of 20/20 to 20/40; group 2, 20/50 to 20/400, and group 3, <20/400. RESULTS: A total of 74 children were studied. Forty-six (62%) underwent enucleation of 1 eye. The visual acuity of the remaining 102 eyes was divided into groups 1, 2, and 3. Fifty-eight percent of these eyes were in group 1, 31% in group 2, and 9% in group 3. Two percent underwent subsequent enucleation after treatment. The tumors were analyzed on the basis of Reese-Ellsworth classification, location, size, and distance from the macula. Excluding Reese-Ellsworth group VB, there was no correlation between Reese-Ellsworth classification and final visual outcome. Tumors involving the macula were in 7 (78%) of 9 eyes with poor visual outcome (group 3), and 16 (33%) of 48 eyes with excellent vision (group 1) had macular tumors. Paradoxically, 2 (22%) of 9 eyes in group 3 did not have tumors involving the macula. CONCLUSIONS: Children with retinoblastoma now have an excellent prognosis for life. Although correlated with tumor location, visual outcome is not always easily predicted on the basis of the initial presentation. Final acuity is excellent in most cases but may be influenced by multiple factors that must be considered when caring for these children and families.

Child, Preschool↗
PubMed2004

A fast visual evoked potential method for functional assessment and follow-up of childhood optic gliomas.

OBJECTIVE: To evaluate a fast technique of visual evoked potentials (VEPs) recording, in response to steady-state luminance stimuli (SS-LVEPs), for functional assessment and follow-up of childhood optic gliomas (OGs). METHODS: Eighteen OG patients (age range: 3.5-18 years), with different degrees of optic pathway damage severity, were examined. Sixteen age-matched normal subjects served as controls. Ten of the 18 OG patients were re-tested 1-3 months after the first examination. SS-LVEPs were elicited by a sinusoidally-modulated flickering (8 Hz) uniform field, generated by a light emitting diode (LED)-array and presented monocularly in a mini-ganzfeld. Amplitude and phase of the Fourier-analyzed response fundamental (1F) and second harmonic (2F) were measured. The full VEP protocol had a median duration of 6 min (range: 4-12). RESULTS: When compared to normal control values, median 1F and 2F SS-LVEP amplitudes of OG patients were reduced (P<0.01), with a borderline increase in 2F phase lag (P<0.05). In 11 OG patients with asymmetric optic pathway damage in between-eye comparisons, median 1F amplitude losses were greater (P<0.01) in fellow eyes with more severe damage. No significant interocular difference was observed in control subjects. Median test-retest changes of 1F and 2F component were <20% and 30 degrees for amplitude and phase, respectively. In individual OG patients, 1F and 2F amplitudes were positively correlated (P<0.01) with visual acuity. 1F amplitude losses were correlated (P=0.01) with the severity of optic disc atrophy. Considering both 1F and 2F abnormalities, diagnostic sensitivity of SS-LVEP in detecting OG-induced optic pathways damage was 83.3%. CONCLUSIONS: The present findings support the use of this technique, as an alternative to pattern VEPs, for functional assessment and follow-up of OG in uncooperative children.

Adolescent↗
PubMed2002

Adenoviral delivery of a constitutively active retinoblastoma mutant inhibits neointima formation in a human explant model for vein graft disease.

Intimal hyperplasia resulting from vascular injury remains a major obstacle in the long-term success of coronary artery bypass grafts. Inhibition of smooth muscle cell (SMC) proliferation using adenoviral gene transfer of cell cycle inhibitors resulted in reduced neointima formation in various animal models. However, little is known about the effect on human SMCs and neointima formation. Here we report the effects of infection with an adenoviral vector encoding a constitutively active form of the retinoblastoma gene (Ad. delta Rb) on proliferation of human saphenous vein SMCs (HSVSMCs) and neointima formation in organ cultures of human saphenous vein. Proliferation of SMCs was inhibited dose-dependently after infection with Ad. delta Rb. A near-total inhibition was found at an Ad. delta Rb concentration of 10(8) pfu/ml. Organ cultures of human saphenous vein segments were used to evaluate the effect of Ad. delta Rb infection on neointima formation and vein graft disease. Segments cultured for 4 weeks develop a neointima that is morphologically highly similar to early initimal lesions found in pathological vein grafts in vivo. Infection of saphenous vein segments with 2 x 10(9) pfu/ml Ad. delta Rb resulted in a 59% reduction of neointimal area when compared to uninfected counterparts, whereas infection with control adenovirus, Ad.LacZ, had no significant effect. The results of this study show that Ad. delta Rb gene transfer might be an efficient approach to prevent neointima formation in human saphenous vein grafts.

Adenoviridae↗
PubMedDate not supplied

Normal EOG values in intraretinal metastasis from cutaneous melanoma: a case report.

PURPOSE: The electro-oculogram (EOG) is a powerful test to diagnose primary and metastatic choroidal tumors. While in benign tumors light-peak to dark-trough ratio values are in the range of normal subjects, these values appear highly altered in eyes affected by malignant choroidal tumors. Here we report a clinical case of a patient with intraretinal metastasis from cutaneous melanoma; notwithstanding the malignancy of the tumor, the EOG doesn't present alterations. METHODS AND RESULTS: Standard electro-oculographic recordings were performed before and after local excision of the tumor: recordings from the normal eye were taken as control. The EOG values were always normal in both eyes. Histological sections showed no evident change in the cell population of the retinal pigment epithelium (RPE) and Bruch's membrane. CONCLUSION: Our results suggest that the presence of an intact RPE is a crucial requirement to obtain a normal EOG.

Adult↗
PubMed2001

Combined hamartoma of the retina and retinal pigment epithelium associated with neurofibromatosis type-1.

BACKGROUND: Retinal tumors are occasionally seen in patients with neurofibromatosis type-1 (NF-1). These are usually astrocytic hamartomas or angiomas. Combined hamartoma of the retina and retinal pigment epithelium are tumors also described in NF-1, but this association has not been definitively established yet. METHOD: We report on a child with NF-1, who presented a combined hamartoma of the retina and retinal pigment epithelium in both eyes. RESULTS: The diagnosis of bilateral combined hamartoma of the retina and retinal pigment epithelium in our patient was performed on the basis of the ophthalmoscopic appearance of the lesions. NF-1 was diagnosed following the current international clinical criterion, supplemented by neuroimaging findings. CONCLUSION: Despite the extreme rarity of this association, we believe that it is not coincidental, as the presence of a hamartomatous retinal lesion in a patient with a systemic hamartomatous neuroectodermic disease would be, at least, rational. Thus, NF-1 must be excluded in patients with combined hamartoma of the retina and retinal pigment epithelium.

Child↗
PubMed2003

Retinal function in the von Hippel-Lindau disease.

PURPOSE: To assess the retinal function in patients with von Hippel-Lindau disease (VHL). PATIENTS: Studies were undertaken in 12 patients (17 eyes) with detected VHL gene mutation and 12 normal healthy controls (17 eyes). METHODS: Pattern ERG (PERG), standard flash electroretinogram (ERG) recordings were performed in accordance with the International Society for Clinical Electrophysiology of Vision (ISCEV) standards. RESULTS: In VHL patients, electrophysiological statistically significant changes were found. In PERG examination, increased latency of P50 was found in the total VHL group (p < 0.02) and in the VHL subgroup with retinal angiomas (p < 0.04). In ERG examination, photopic b-wave latency was increased in the total VHL group (p < 0.03) and also in the VHL subgroup without retinal angiomas (p < 0.05). In OPs, latency increase of OP2, OP3 waves and reduced amplitude of OP3 wave in the total VHL group (OP2 latency, p < 0.05; OP3 latency, p < 0.01; OP3 amplitude, p < 0.03) and in the VHL subgroup with retinal angiomas (OP2 latency, p < 0.02; OP3 latency, p < .008; OP3 amplitude, p < 0.02) were obtained. CONCLUSIONS: It can be hypothesized that dysfunction of the inner retinal layer is present in individuals with VHL disease even in patients without retinal angiomas.

Adult↗
PubMed1999

Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion.

We describe the facial dysmorphic phenotype and the neurological development of a series of 22 retinoblastoma patients sharing a cytogenetically detectable 13q deletion in a retrospective and longitudinal study. In most of the cases, high-resolution banding analysis, morphological analysis, and assessment for neurodevelopmental outcome, as well for organ malformations, were performed. Chromosomal rearrangement involving the RB1 gene included 20 13q interstitial deletions (including 16 de novo deletions) and two (de novo translocations. The most prominent dysmorphic abnormalities were anteverted ear lobes (90%), a high and broad forehead (85%), and a prominent philtrum (65%). This phenotype was associated with severe mental retardation and/or motor impairment at age 2 years in 69% of patients and correlated with the size and the location of the 13q deletion. The survival rate of our series (91%) was not different from that usually seen in retinoblastoma patients.

Child↗
PubMed1998

Familial retinoblastoma: where and when?

PURPOSE: To determine when patients with a family history of retinoblastoma and previously normal eye exam develop intraocular disease, and where the new retinoblastoma tumors occur. METHODS: A retrospective chart review of retinoblastoma patients. RESULTS: Sixty-two percent of the first eyes (eyes having a previously normal examination) were diagnosed with retinoblastoma by 6 months of age, 90% by 12 months and 100% by 28 months. For the second eye, 27% were identified by 6 months, 64% by 12 months, 91% by 30 months and 100% by 44 months. The younger the age at initial diagnosis of retinoblastoma, the greater the likelihood that tumors will initially be found in the posterior pole. Macular tumors were diagnosed very early (mean 4 months) and once a retinoblastoma focus had appeared in one eye no new tumors developed in the macula of either eye. CONCLUSION: The timing, location, and number of new retinoblastoma tumors follows a predictable pattern.

Age of Onset↗
PubMed2002

A prospective study of children treated for retinoblastoma: cognitive and visual outcomes in relation to treatment.

PURPOSE: : To assess cognitive and visual outcomes in children treated for retinoblastoma. PATIENTS AND METHODS: A population-based group of 22 children treated for retinoblastoma were followed in a longitudinal, prospective study. Eleven children had unilateral tumours, all of which had been enucleated. The remaining 11 had bilateral tumours. Seven of these had undergone unilateral enucleation and local or external beam radiation to the other eye. Four children had been treated with local or external beam radiation only. Cognitive outcome and visual function was assessed at 4 and 6 years of age. RESULTS: We found no general delay in cognitive or motor development at 4 or 6 years of age. Better cognitive capacities were found in the bilateral/irradiated retinoblastoma patients than in unilateral/non-irradiated patients. However, two of the irradiated children, both of whom had been treated at 1 month of age, performed below group mean. None of the children was totally blind. Three children were visually impaired due to tumours affecting the macular area in the remaining eye; another three had subnormal visual acuity but no macular pathology. A total of 14 children had been enucleated and had normal vision in the remaining eye. Visual fields and dark adaptation were adversely affected in a few cases, but colour vision was normal in all. CONCLUSION: Bilateral retinoblastoma seems to be associated with superior cognitive capacities. Few children were visually impaired according to WHO criteria. We speculate that children treated during the first months of life may be at risk of adverse cognitive and visual outcomes. The immature brain may be affected by radiation treatment, causing both cognitive and visual deviations.

Brachytherapy↗
PubMed2002

A case of central visual loss in a child due to macular cavernous haemangioma of the retina.

PURPOSE: To report a case of retinal cavernous haemangioma localized to the fovea. METHODS: Clinical examination, fluorescein angiographic study and magnetic resonance imaging are reported. RESULTS: A 9-year-old girl presented with acute loss of vision in the right eye. Ophthalmoscopy showed intraretinal bleeding in the macula, while fluorescein angiography showed a lesion typical of a small cavernous retinal haemangioma, localized in the central macula. Family history was negative. CONCLUSION: Central cavernous retinal haemangioma is a rare cause of central visual loss and should be distinguished from other retinal vascular abnormalities with more profound systemic implications for the patient.

Acute Disease↗
PubMed2003

Detection of oncogenic human papillomavirus in sporadic retinoblastoma.

PURPOSE: To investigate the presence of human papillomavirus (HPV) DNA in tumour tissue from patients with unilateral retinoblastoma. METHODS: Samples of paraffin-embedded tumour tissue from 43 children with unilateral retinoblastoma were collected to investigate the presence of HPV DNA using polymerase chain reaction (PCR) and dot blot hybridization. RESULTS: Oncogenic HPV DNA types 16 and 35 were detected in 12 (27.9%) of 43 tumour specimens. A higher frequency of differentiated tumours (63.3%) was observed among the HPV-positive tumours. CONCLUSIONS: Future studies are necessary to demonstrate an association between HPV and sporadic retinoblastoma.

Child, Preschool↗
PubMed1997

Presentation of retinoblastoma as phthisis bulbi.

PURPOSE: We sought to determine the incidence of retinoblastoma patients who presented with phthisis bulbi. METHODS: The medical records of 272 patients in the King Khaled Eye Specialist Hospital Retinoblastoma Registry were retrospectively studied. Clinical records, radiological investigations and histopathological slides were reviewed. RESULTS: We found that 2.7% of patients had retinoblastoma coincident with phthisis bulbi. Five of 10 patients had bilateral retinoblastoma; in the others it was unilateral. Radiologically, intraocular calcification was present in all except one case. All enucleated phthisical globes had residual viable tumour cells; optic nerve extension was found in 2 patients who had long-standing phthisis bulbi. CONCLUSION: Phthisis bulbi is an uncommon presenting sign of retinoblastoma which often occurs after an ocular inflammatory episode possibly related to intraocular tumour infarction. In most cases the tumour is not visible because of intraocular disruption. That every enucleated eye in this series harboured well-differentiated tumour cells underlies the seriousness with which phthisis bulbi of unknown origin in children should be investigated for retinoblastoma.

Adolescent↗